Variant report

Variant	rs6048797
Chromosome Location	chr20:23422621-23422622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23400976..23401856-chr20:23422235..23423058,2	MCF-7	breast:
2	chr20:23415648..23417559-chr20:23421207..23423158,2	MCF-7	breast:
3	chr20:23422154..23423090-chr20:23586925..23587808,6	MCF-7	breast:
4	chr20:23422547..23423488-chr20:23586916..23587742,4	K562	blood:
5	chr20:23329921..23332820-chr20:23421116..23423226,2	MCF-7	breast:
6	chr20:23421799..23423146-chr20:23586414..23588198,22	MCF-7	breast:
7	chr20:23415427..23417677-chr20:23422614..23424382,2	K562	blood:
8	chr20:23422166..23423021-chr20:23565222..23566039,3	MCF-7	breast:
9	chr20:23422153..23424654-chr20:23586384..23588911,4	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1003417	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2281430	0.85[EUR][1000 genomes]
rs2405231	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2424529	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2424533	0.86[EUR][1000 genomes]
rs2424538	0.86[EUR][1000 genomes]
rs2424543	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2424547	0.86[EUR][1000 genomes]
rs2424553	0.87[EUR][1000 genomes]
rs6048777	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6076065	0.86[EUR][1000 genomes]
rs6083105	0.86[EUR][1000 genomes]
rs6083106	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs743021	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs999072	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6048797	NAPB	cis	Artery Tibial	GTEx
rs6048797	NAPB	cis	Esophagus Muscularis	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417000-23422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23417200-23434800	Weak transcription	Gastric	stomach
3	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
4	chr20:23421200-23427200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23422400-23422800	Enhancers	Brain Anterior Caudate	brain
6	chr20:23422400-23423000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:23422400-23423000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr20:23422400-23423000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:23422400-23423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:23422400-23426400	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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